| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915365_51915368del | CA2739272049 | ACVRL1 | c.643_646del (p.Ser215ArgfsTer?) c.913_916del (p.Ser305ArgfsTer?) c.391_394del (p.Ser131ArgfsTer?) c.955_958del (p.Ser319ArgfsTer?) c.124_127del (p.Ser42ArgfsTer?) | ClinVar |
| 12 | g.51915367_51915368delinsCG | CA2036269486 | ACVRL1 | c.645_646delinsCG (p.Ser215=) c.915_916delinsCG (p.Ser305=) c.393_394delinsCG (p.Ser131=) c.957_958delinsCG (p.Ser319=) c.126_127delinsCG (p.Ser42=) | |
| 12 | g.51915368del | CA16619569 | ACVRL1 | c.646del (p.Ala216ArgfsTer?) c.916del (p.Ala306ArgfsTer?) c.394del (p.Ala132ArgfsTer?) c.958del (p.Ala320ArgfsTer?) c.127del (p.Ala43ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915368G>A | CA384900956 | ACVRL1 | c.646G>A (p.Ala216Thr) c.916G>A (p.Ala306Thr) c.394G>A (p.Ala132Thr) c.958G>A (p.Ala320Thr) c.127G>A (p.Ala43Thr) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915368G>C | CA384900960 | ACVRL1 | c.646G>C (p.Ala216Pro) c.916G>C (p.Ala306Pro) c.394G>C (p.Ala132Pro) c.958G>C (p.Ala320Pro) c.127G>C (p.Ala43Pro) | ClinVar dbSNP |
| 12 | g.51915368G= | CA2036269489 | ACVRL1 | c.646G= (p.Ala216=) c.916G= (p.Ala306=) c.394G= (p.Ala132=) c.958G= (p.Ala320=) c.127G= (p.Ala43=) | |
| 12 | g.51915368G>T | CA384900963 | ACVRL1 | c.646G>T (p.Ala216Ser) c.916G>T (p.Ala306Ser) c.394G>T (p.Ala132Ser) c.958G>T (p.Ala320Ser) c.127G>T (p.Ala43Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915368_51915369delinsAA | CA16614160 | ACVRL1 | c.646_647delinsAA (p.Ala216Lys) c.916_917delinsAA (p.Ala306Lys) c.394_395delinsAA (p.Ala132Lys) c.958_959delinsAA (p.Ala320Lys) c.127_128delinsAA (p.Ala43Lys) | ClinVar dbSNP |
| 12 | g.51915368_51915369delinsGC | CA2036269488 | ACVRL1 | c.646_647delinsGC (p.Ala216=) c.916_917delinsGC (p.Ala306=) c.394_395delinsGC (p.Ala132=) c.958_959delinsGC (p.Ala320=) c.127_128delinsGC (p.Ala43=) | |
| 12 | g.51915373_51915379dup | CA2695216746 | ACVRL1 | c.651_657dup (p.Leu220MetfsTer?) c.921_927dup (p.Leu310MetfsTer?) c.399_405dup (p.Leu136MetfsTer?) c.963_969dup (p.Leu324MetfsTer?) c.132_138dup (p.Leu47MetfsTer?) | |
| 12 | g.51915368_51915369insTCA | CA1139662701 | ACVRL1 | c.646_647insTCA (p.Ala216delinsValThr) c.916_917insTCA (p.Ala306delinsValThr) c.394_395insTCA (p.Ala132delinsValThr) c.958_959insTCA (p.Ala320delinsValThr) c.127_128insTCA (p.Ala43delinsValThr) | ClinVar dbSNP |
| 12 | g.51915369C>A | CA384900973 | ACVRL1 | c.647C>A (p.Ala216Glu) c.917C>A (p.Ala306Glu) c.395C>A (p.Ala132Glu) c.959C>A (p.Ala320Glu) c.128C>A (p.Ala43Glu) | |
| 12 | g.51915369C= | CA2036269490 | ACVRL1 | c.647C= (p.Ala216=) c.917C= (p.Ala306=) c.395C= (p.Ala132=) c.959C= (p.Ala320=) c.128C= (p.Ala43=) | |
| 12 | g.51915369C>G | CA384900969 | ACVRL1 | c.647C>G (p.Ala216Gly) c.917C>G (p.Ala306Gly) c.395C>G (p.Ala132Gly) c.959C>G (p.Ala320Gly) c.128C>G (p.Ala43Gly) | gnomAD v4 |
| 12 | g.51915369C>T | CA6573017 | ACVRL1 | c.647C>T (p.Ala216Val) c.917C>T (p.Ala306Val) c.395C>T (p.Ala132Val) c.959C>T (p.Ala320Val) c.128C>T (p.Ala43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915370G>A | CA480063219 | ACVRL1 | c.648G>A (p.Ala216=) c.918G>A (p.Ala306=) c.396G>A (p.Ala132=) c.960G>A (p.Ala320=) c.129G>A (p.Ala43=) | gnomAD v4 COSMIC |
| 12 | g.51915370G>C | CA480063221 | ACVRL1 | c.648G>C (p.Ala216=) c.918G>C (p.Ala306=) c.396G>C (p.Ala132=) c.960G>C (p.Ala320=) c.129G>C (p.Ala43=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915370G= | CA2036269491 | ACVRL1 | c.648G= (p.Ala216=) c.918G= (p.Ala306=) c.396G= (p.Ala132=) c.960G= (p.Ala320=) c.129G= (p.Ala43=) | |
| 12 | g.51915370G>T | CA480063220 | ACVRL1 | c.648G>T (p.Ala216=) c.918G>T (p.Ala306=) c.396G>T (p.Ala132=) c.960G>T (p.Ala320=) c.129G>T (p.Ala43=) | |
| 12 | g.51915371del | CA2739272050 | ACVRL1 | c.649del (p.Ala217HisfsTer?) c.919del (p.Ala307HisfsTer?) c.397del (p.Ala133HisfsTer?) c.961del (p.Ala321HisfsTer?) c.130del (p.Ala44HisfsTer?) | ClinVar |
| 12 | g.51915371G>A | CA384900975 | ACVRL1 | c.649G>A (p.Ala217Thr) c.919G>A (p.Ala307Thr) c.397G>A (p.Ala133Thr) c.961G>A (p.Ala321Thr) c.130G>A (p.Ala44Thr) | |
| 12 | g.51915371G>C | CA384900976 | ACVRL1 | c.649G>C (p.Ala217Pro) c.919G>C (p.Ala307Pro) c.397G>C (p.Ala133Pro) c.961G>C (p.Ala321Pro) c.130G>C (p.Ala44Pro) | |
| 12 | g.51915371G>T | CA384900983 | ACVRL1 | c.649G>T (p.Ala217Ser) c.919G>T (p.Ala307Ser) c.397G>T (p.Ala133Ser) c.961G>T (p.Ala321Ser) c.130G>T (p.Ala44Ser) | |
| 12 | g.51915372C>A | CA325209 | ACVRL1 | c.650C>A (p.Ala217Glu) c.920C>A (p.Ala307Glu) c.398C>A (p.Ala133Glu) c.962C>A (p.Ala321Glu) c.131C>A (p.Ala44Glu) | ClinVar dbSNP |
| 12 | g.51915372C= | CA2036269492 | ACVRL1 | c.650C= (p.Ala217=) c.920C= (p.Ala307=) c.398C= (p.Ala133=) c.962C= (p.Ala321=) c.131C= (p.Ala44=) | |
| 12 | g.51915372C>G | CA384900989 | ACVRL1 | c.650C>G (p.Ala217Gly) c.920C>G (p.Ala307Gly) c.398C>G (p.Ala133Gly) c.962C>G (p.Ala321Gly) c.131C>G (p.Ala44Gly) | |
| 12 | g.51915372C>T | CA236364091 | ACVRL1 | c.650C>T (p.Ala217Val) c.920C>T (p.Ala307Val) c.398C>T (p.Ala133Val) c.962C>T (p.Ala321Val) c.131C>T (p.Ala44Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915373A>C | CA480063222 | ACVRL1 | c.651A>C (p.Ala217=) c.921A>C (p.Ala307=) c.399A>C (p.Ala133=) c.963A>C (p.Ala321=) c.132A>C (p.Ala44=) | |
| 12 | g.51915373A>G | CA480063223 | ACVRL1 | c.651A>G (p.Ala217=) c.921A>G (p.Ala307=) c.399A>G (p.Ala133=) c.963A>G (p.Ala321=) c.132A>G (p.Ala44=) | |
| 12 | g.51915373A>T | CA480063224 | ACVRL1 | c.651A>T (p.Ala217=) c.921A>T (p.Ala307=) c.399A>T (p.Ala133=) c.963A>T (p.Ala321=) c.132A>T (p.Ala44=) | ClinVar |
| 12 | g.51915374T>A | CA384900998 | ACVRL1 | c.652T>A (p.Cys218Ser) c.922T>A (p.Cys308Ser) c.400T>A (p.Cys134Ser) c.964T>A (p.Cys322Ser) c.133T>A (p.Cys45Ser) | |
| 12 | g.51915374T>C | CA384901009 | ACVRL1 | c.652T>C (p.Cys218Arg) c.922T>C (p.Cys308Arg) c.400T>C (p.Cys134Arg) c.964T>C (p.Cys322Arg) c.133T>C (p.Cys45Arg) | gnomAD v4 |
| 12 | g.51915374T>G | CA384901012 | ACVRL1 | c.652T>G (p.Cys218Gly) c.922T>G (p.Cys308Gly) c.400T>G (p.Cys134Gly) c.964T>G (p.Cys322Gly) c.133T>G (p.Cys45Gly) | |
| 12 | g.51915375G>A | CA384901017 | ACVRL1 | c.653G>A (p.Cys218Tyr) c.923G>A (p.Cys308Tyr) c.401G>A (p.Cys134Tyr) c.965G>A (p.Cys322Tyr) c.134G>A (p.Cys45Tyr) | |
| 12 | g.51915375G>C | CA384901020 | ACVRL1 | c.653G>C (p.Cys218Ser) c.923G>C (p.Cys308Ser) c.401G>C (p.Cys134Ser) c.965G>C (p.Cys322Ser) c.134G>C (p.Cys45Ser) | |
| 12 | g.51915375G>T | CA384901035 | ACVRL1 | c.653G>T (p.Cys218Phe) c.923G>T (p.Cys308Phe) c.401G>T (p.Cys134Phe) c.965G>T (p.Cys322Phe) c.134G>T (p.Cys45Phe) | |
| 12 | g.51915376C>A | CA384901042 | ACVRL1 | c.654C>A (p.Cys218Ter) c.924C>A (p.Cys308Ter) c.402C>A (p.Cys134Ter) c.966C>A (p.Cys322Ter) c.135C>A (p.Cys45Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915376C= | CA2036269493 | ACVRL1 | c.654C= (p.Cys218=) c.924C= (p.Cys308=) c.402C= (p.Cys134=) c.966C= (p.Cys322=) c.135C= (p.Cys45=) | |
| 12 | g.51915376C>G | CA384901039 | ACVRL1 | c.654C>G (p.Cys218Trp) c.924C>G (p.Cys308Trp) c.402C>G (p.Cys134Trp) c.966C>G (p.Cys322Trp) c.135C>G (p.Cys45Trp) | |
| 12 | g.51915376C>T | CA480063225 | ACVRL1 | c.654C>T (p.Cys218=) c.924C>T (p.Cys308=) c.402C>T (p.Cys134=) c.966C>T (p.Cys322=) c.135C>T (p.Cys45=) | dbSNP gnomAD v4 |
| 12 | g.51915377G>A | CA384901046 | ACVRL1 | c.655G>A (p.Gly219Ser) c.925G>A (p.Gly309Ser) c.403G>A (p.Gly135Ser) c.967G>A (p.Gly323Ser) c.136G>A (p.Gly46Ser) | ClinVar dbSNP |
| 12 | g.51915377G>C | CA384901048 | ACVRL1 | c.655G>C (p.Gly219Arg) c.925G>C (p.Gly309Arg) c.403G>C (p.Gly135Arg) c.967G>C (p.Gly323Arg) c.136G>C (p.Gly46Arg) | ClinVar dbSNP |
| 12 | g.51915377G= | CA2036269494 | ACVRL1 | c.655G= (p.Gly219=) c.925G= (p.Gly309=) c.403G= (p.Gly135=) c.967G= (p.Gly323=) c.136G= (p.Gly46=) | |
| 12 | g.51915377G>T | CA384901051 | ACVRL1 | c.655G>T (p.Gly219Cys) c.925G>T (p.Gly309Cys) c.403G>T (p.Gly135Cys) c.967G>T (p.Gly323Cys) c.136G>T (p.Gly46Cys) | |
| 12 | g.51915378G>A | CA384901054 | ACVRL1 | c.656G>A (p.Gly219Asp) c.926G>A (p.Gly309Asp) c.404G>A (p.Gly135Asp) c.968G>A (p.Gly323Asp) c.137G>A (p.Gly46Asp) | ClinVar |
| 12 | g.51915378G>C | CA384901056 | ACVRL1 | c.656G>C (p.Gly219Ala) c.926G>C (p.Gly309Ala) c.404G>C (p.Gly135Ala) c.968G>C (p.Gly323Ala) c.137G>C (p.Gly46Ala) | |
| 12 | g.51915378G>T | CA384901058 | ACVRL1 | c.656G>T (p.Gly219Val) c.926G>T (p.Gly309Val) c.404G>T (p.Gly135Val) c.968G>T (p.Gly323Val) c.137G>T (p.Gly46Val) | ClinVar COSMIC COSMIC |
| 12 | g.51915379C>A | CA6573018 | ACVRL1 | c.657C>A (p.Gly219=) c.927C>A (p.Gly309=) c.405C>A (p.Gly135=) c.969C>A (p.Gly323=) c.138C>A (p.Gly46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915379C= | CA2036269497 | ACVRL1 | c.657C= (p.Gly219=) c.927C= (p.Gly309=) c.405C= (p.Gly135=) c.969C= (p.Gly323=) c.138C= (p.Gly46=) | |
| 12 | g.51915379C>G | CA480063226 | ACVRL1 | c.657C>G (p.Gly219=) c.927C>G (p.Gly309=) c.405C>G (p.Gly135=) c.969C>G (p.Gly323=) c.138C>G (p.Gly46=) |